LRP1 c.2995+144C>G

Variant ID: 12-57561451-C-G

NM_002332.2(LRP1):c.2995+144C>G

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs1800176
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs1800176
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



The association between LRP-1 variants and chylomicron uptake after a high fat meal.

Nutrition, Metabolism, And Cardiovascular Diseases : Nmcd
Frazier-Wood, A C AC; Kabagambe, E K EK; Wojczynski, M K MK; Borecki, I B IB; Tiwari, H K HK; Smith, C E CE; Ordovas, J M JM; Arnett, D K DK
Publication Date: 2013-11

Variant appearance in text: rs1800176
PubMed Link: 23484911
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lipoprotein receptor-related protein 1 variants and dietary fatty acids: meta-analysis of European origin and African American studies.

International Journal Of Obesity (2005)
Smith, C E CE; Ngwa, J J; Tanaka, T T; Qi, Q Q; Wojczynski, M K MK; Lemaitre, R N RN; Anderson, J S JS; Manichaikul, A A; Mikkilä, V V; van Rooij, F J A FJ; Ye, Z Z; Bandinelli, S S; Frazier-Wood, A C AC; Houston, D K DK; Hu, F F; Langenberg, C C; McKeown, N M NM; Mozaffarian, D D; North, K E KE; Viikari, J J; Zillikens, M C MC; Djoussé, L L; Hofman, A A; Kähönen, M M; Kabagambe, E K EK; Loos, R J F RJ; Saylor, G B GB; Forouhi, N G NG; Liu, Y Y; Mukamal, K J KJ; Chen, Y-D I YD; Tsai, M Y MY; Uitterlinden, A G AG; Raitakari, O O; van Duijn, C M CM; Arnett, D K DK; Borecki, I B IB; Cupples, L A LA; Ferrucci, L L; Kritchevsky, S B SB; Lehtimäki, T T; Qi, Lu L; Rotter, J I JI; Siscovick, D S DS; Wareham, N J NJ; Witteman, J C M JC; Ordovás, J M JM; Nettleton, J A JA
Publication Date: 2013-09

Variant appearance in text: rs1800176
PubMed Link: 23357958
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide scan on total serum IgE levels identifies FCER1A as novel susceptibility locus.

Plos Genetics
Weidinger, Stephan S; Gieger, Christian C; Rodriguez, Elke E; Baurecht, Hansjörg H; Mempel, Martin M; Klopp, Norman N; Gohlke, Henning H; Wagenpfeil, Stefan S; Ollert, Markus M; Ring, Johannes J; Behrendt, Heidrun H; Heinrich, Joachim J; Novak, Natalija N; Bieber, Thomas T; Krämer, Ursula U; Berdel, Dietrich D; von Berg, Andrea A; Bauer, Carl Peter CP; Herbarth, Olf O; Koletzko, Sibylle S; Prokisch, Holger H; Mehta, Divya D; Meitinger, Thomas T; Depner, Martin M; von Mutius, Erika E; Liang, Liming L; Moffatt, Miriam M; Cookson, William W; Kabesch, Michael M; Wichmann, H-Erich HE; Illig, Thomas T
Publication Date: 2008-08

Variant appearance in text: rs1800176
PubMed Link: 18846228
Variant Present in the following documents:
View BVdb publication page